A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752177



Internal ID12639043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7689616..8138059hg38UCSC Ensembl
Innerchr7:7729247..8177689hg19UCSC Ensembl
Innerchr7:7695772..8144214hg18UCSC Ensembl
Innerchr7:7502487..7950929hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38448444
hg19448443
hg18448443
hg17448443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982199, essv6986100, essv6982201, essv6982200
SamplesBEC_401
Known GenesGLCCI1, ICA1, RPA3, RPA3-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752177
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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